METHOD FOR SIMULTANEOUS DIAGNOSIS OF NONCLASSICAL FORMS OF CONGENITAL ADRENAL CORTEX DYSFUNCTION WITH 21-HYDROXYLASE DEFICIENCY AND 11β-HYDROXYLASE Russian patent published in 2018 - IPC G01N33/74 

FIELD: medicine.

SUBSTANCE: invention relates to medicine, namely, endocrinology, and can be used for simultaneous diagnosis of nonclassical forms of congenital adrenal cortex dysfunction (NFD PD) with deficiency of 21-hydroxylase and 11β-hydroxylase. To do this, use the following methods: high performance liquid chromatography (HPLC) and gas chromatography with mass spectrometric detection (GC-MS). When HPLC is performed, blood indices of cortisol (F), cortisone (E), 21-deoxycortisol (21-deoxy-F), 11-dehydrocorticosterone (A), corticosterone (B), 11-deoxycorticosterone (DOC) and 11-deoxycortisol (S). When GC-MS is performed, the urinary excretion of tetrahydrocortisone (THE) is determined, tetrahydrocortisol (THF), allo-THF, tetrahydrocorticosterone (TNB), allo-THB, tetrahydro-11-dehydrocorticosterone (TNA), tetrahydro-11-deoxy-cortisol (THS), hexahydro-11-deoxycortisol (HHS), tetrahydro-11-deoxy-corticosterone (THDOC), androsterone (An), etiocholanolone (Et), 17β-hydroxyandrostenediol (17βdA₂), dehydroepiandrosterone (DHEA), 11-hydroxyandrosterone (11An), 11-hydroxyethiocholanolone (11Et), 17-hydroxy-pregnanolone (17P), pregnantriol (P3), 11oxo-P3, 3α,17,20-pregentriene (dP3-3α), dP3-3β, 16-oxo-androstenediol (16oxo-dA2), 21-deoxytetrahydrocortisol (21deoxy-THF), 16-hydroxypregnenolone (16dP), 21-hydroxypregnenolone (21dP), 11-hydroxypregentriol (11dP3), 11-oxo-pre-henenthrone (11oxo dP3). With increase in 21-deoxy-F > 3.0 ng/ml and a decrease in the ratio F/E < 4.0 in the blood, increased urinary excretion of 17P > 200 mcg/24 h, DHEA > 500 mcg/24 h, 17βdA2 > 200 mcg/24 h, P3 > 1000 mcg/24 h, 11 oxo- P3 > 90 mcg/24 h, 21deoxy-THF > 100 mcg/24 h, 16oxo-dA2 > 40 mcg/24 h, lowering ratios (THF+alloTHF+THE)/P3 < 2.5, (THF+alloTHF+THE)/11oxo-P3 < 21, (THF+alloTHF+THE)/17P < 12.0 and THB/THA < 1.0, increasing ratios allo-THB/THB > 2.0, An/Et > 1.5 and 11An/11Et > 2.0, determination of 5-ene pregnenes (16dP, 21dP, 11dP3, 11-oxo-dP3 or dP3-3β), not detected in healthy individuals, diagnose nonclassical form of PDCN due to a defect of 21-hydroxylase. With increase in S > 10.0 ng/ml and/or DOC > 4.0 ng/ml and a decrease in ratios of F/S < 3.5, F/E < 4.0 and B/A < 1.0 in blood, increase in urinary excretion of THS > 200 mcg/24 h and/or THDOC > 70 mcg/24 h, HHS > 180 mcg/24 h and DHEA > 500 mcg/24 h, lowering ratio (THF+alloTHF+THE)/THS < 22 diagnose nonclassical form of PDCN due to defect of 11βhydroxylase.

EFFECT: invention allows simultaneous diagnosis of NF PDCN with deficiency of 21-hydroxylase and 11β-hydroxylase without carrying out stimulation test with synthetic analog of corticotropin, and also to increase the accuracy, specificity and sensitivity of diagnosis of NF PDCN with deficiency of 21-hydroxylase.

1 cl, 5 ex, 8 tbl